1:2409276 A / G

dbSNP
rs12049628
Allele Frequency
0.3436
Allele Count
826 / 2404
UCSC
1-2409276-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
52650.7
Filter Status
PASS
 Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Number of Heterozygotes Homozygous Genotype Freq. Heterozygous Genotype Freq. Allele Frequency
Arab 81 204 37 7 0.3627 0.0686 0.3971
Azeri 84 200 39 6 0.39 0.06 0.42
Baloch 79 202 33 13 0.3267 0.1287 0.3911
Gilaki 26 198 11 4 0.1111 0.0404 0.1313
Kurd 37 200 16 5 0.16 0.05 0.185
Lur 62 200 26 10 0.26 0.1 0.31
Mazani 85 200 34 17 0.34 0.17 0.425
Persian 45 200 18 9 0.18 0.09 0.225
Persian Gulf Islander 71 200 25 21 0.25 0.21 0.355
Sistani 81 200 35 11 0.35 0.11 0.405
Turkmen 50 200 23 4 0.23 0.04 0.25
Zartoshti 125 200 55 15 0.55 0.15 0.625
Total 826 2404 352 122 0.2928452579034942 0.10149750415973377 0.3436
Annotations

This variant falls on 6 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Additional Annotations
Metric Prediction
SIFT Pred (C) ?
Polyphen2 HVAR Pred (C) ?
MutationTaster Pred (C) ?
MutationAssessor Pred (C) ?
FATHMM Pred (C) ?
FATHMM MKL Coding Pred (C) ?
N of 6 Predicted Damaging ?
N of 6 Predicted Tolerated ?
MetaSVM Pred ?
MetaLR Pred ?
GERP++ RS ?
CADD Score (Phred Scale) 0.8
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above